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NM_004589.4(SCO1):c.*18G>A AND not specified

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 1, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000438369.1

Allele description [Variation Report for NM_004589.4(SCO1):c.*18G>A]

NM_004589.4(SCO1):c.*18G>A

Gene:
SCO1:synthesis of cytochrome C oxidase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_004589.4(SCO1):c.*18G>A
HGVS:
  • NC_000017.11:g.10681101C>T
  • NG_008228.2:g.21468G>A
  • NM_004589.4:c.*18G>AMANE SELECT
  • NC_000017.10:g.10584418C>T
  • NM_004589.2:c.*18G>A
Links:
dbSNP: rs114082934
NCBI 1000 Genomes Browser:
rs114082934
Molecular consequence:
  • NM_004589.4:c.*18G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000518506GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Likely benign
(May 1, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000518506.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023